NRG1-ErbB4基因多态性与局灶性癫痫易感性的关系  

Association between NRG1-Erbb4 Polymorphism and Focal Epilepsy

作　　者：陈新元 吴晖[1] 莫亚雄[1] 韩雁冰[1] 陈新利[1] 朱文叶 黄蕊 唐薇 CHEN Xin-yuan;WU Hui;MO Ya-xiong;HAN Yan-bing;CHEN Xin-li;ZHU Wen-ye;HUANG Rui;TANG Wen(Dept.Of Pharmacy,The First Affiliated Hospital of Kunming Medical University,Kunming Yunnan 650032,China)

机构地区：[1]昆明医科大学第一附属医院药剂科,云南昆明650032

出　　处：《昆明医科大学学报》2021年第6期82-87,共6页Journal of Kunming Medical University

基　　金：云南省科技计划基金资助项目(2017FE468(-037));云南省科技创新团队基金资助项目(2018HC008);云南省教育厅科学研究基金资助项目(2018JS197)。

摘　　要：目的研究云南地区患有局灶性癫痫人群的神经调节因子1(Neuregulin-1,NRG1)及其受体ErbB4基因的多态现象与局灶性癫痫易感性的关系。方法采用癫痫病例组和健康对照组对比分析,通过Snapshot检测方法,对云南地区的70例局灶性癫痫患者、64例健康对照者进行基因多态现象检测分析,研究对象样本均来自2020年3月到7月昆明医科大学第一附属医院。结果发现局灶性癫痫与NRG1(SNP rs35753505, T> C)的多态现象有相关性,NRG1(SNP rs35753505, T> C)基因型(P=0.007)和等位基因(P=0.005)的分布差异有统计学意义(P<0.05)。与此同时,本研究还对NRG1下游受体ErbB4的基因多态性进行分析,发现ErbB4(SNPrs839523,G> A)基因型(P=0.026)和等位基因(P=0.013)、(SNPrs707284,A> G)基因型(P=0.038)和等位基因(P=0.018)的分布差异有统计学意义(P <0.05),并且发现SNP rs707284携带的G/G基因型OR值为3.656(95%CI=1.160-11.525)。结论携带突变纯合子G/G基因型的人群患癫痫的易感性较高,NRG1-ErbB4基因多态现象可能共同参与了局灶性癫痫的发生。Objective To determine the effect of the Neuregulin-1 and its receptor ErbB4(NRG1-ErbB4 polymorphisms on focal epilepsy.Methods Three single nucleotide polymorphisms(SNPs)of NRG1 gene and three single nucleotide polymorphisms(SNPs)of ErbB4 gene in 70 patients with focal epilepsy and 64 healthy persons were analyzed by the PCR-SnapShot genotyping methods.The samples were all from the First Affiliated Hospital of Kunming Medical University from March to July,2020.Results It was found that focal epilepsy was correlated with polymorphism of NRG1(SNP rs35753505,T>C),the distribution of genotype(P=0.007)and allele(P=0.005)of NRG1(SNP rs35753505,T>C)was statistically significant(P<0.005).Meanwhile,ErbB4 gene polymorphisms of NRG1 downstream receptors was analyzed firstly,and two SNPs was found to be associated with focal epilepsy,ErbB4 SNP(rs839523,P=0.026)and its allele(P=0.013),ErbB4 SNP(rs707284,P=0.038)and its allele(P=0.018).However,no statistically significant association was found between NRG1(rs6994992,rs62510682),ErbB4(rs7598440)polymorphisms and focal epilepsy.Conlusions The susceptibility of focal epilepsy carrying NRG1(SNP,rs35753505)and ErbB4(rs839523,rs707284)mutation homozygous has increased.NRG1-Erb B4 polymorphisms might play an important role together in the susceptibility to partial epilepsy.

关 键 词：神经调节因子1 受体 ErbB-4 局灶性癫痫 基因多态性 

分 类 号：R742.1[医药卫生—神经病学与精神病学]